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Centro Universitário De Brasília - Uniceub Faculdade De Ciências Da Educação E Saúde - Faces Graduação Em Biomedicina
| Content Provider | Semantic Scholar |
|---|---|
| Author | Queiroz, Mayara Alvarenga |
| Copyright Year | 2013 |
| Abstract | Sotos syndrome is an abnormality also known as Cerebral Gigantism, and it is presented by three main features that facilitate the recognization of the pathology: typical facial features, overgrowth and learning disability. The syndrome has been classified as an autossomal dominat disorder, variable phenotype, and the main cause is the haploinsufficiency of the gene NSD1 located on the long arm of chromosome 5. This paper aims to describe Sotos syndrome genetically. The syndrome is genetically variable and well described, and it can lead to cardiac and renal anomalies, behavioral, neoplasic, and so on. For the correct diagnostic it’s important to put together the clinical signs and the molecular founds. The treatment for Sotos syndrome is palliative only, including multidisciplinary assistance for monitoring patients. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.repositorio.uniceub.br/bitstream/235/6859/1/21234718.pdf |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
